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Intellectual disability

Gene: TRNT1

No list

TRNT1 (tRNA nucleotidyl transferase 1)
EnsemblGeneIds (GRCh38): ENSG00000072756
EnsemblGeneIds (GRCh37): ENSG00000072756
OMIM: 612907, Gene2Phenotype
TRNT1 is in 12 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

> 10 families reported with congenital sideroblastic anemia, B-cell deficiency, periodic fevers, and variable degrees of delayed psychomotor development.
Sources: Expert list
Created: 1 Mar 2020, 9:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

1 Mar 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: TRNT1 was added gene: TRNT1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRNT1 were set to 25193871; 23553769; 29170023; 27389523 Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084 Review for gene: TRNT1 was set to GREEN gene: TRNT1 was marked as current diagnostic